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Determination of reference values for the method of intestinal current measurement in the Russian Federation

[Cystic fibrosis]
Julia Leonidovna Melyanovskaya; Elena Ivanovna Kondratieva; Sergey Ivanovich Kutsev;

The aim of the study was to determine the reference values of the method for determining the difference in intestinal potentials in 10 healthy volunteers and 5 patients with cystic fibrosis with a «severe» genotype and absolute pancreatic insufficiency. At stimulation with forskolin, the change in short circuit current (ΔISC) in the control group was 25.78 ± 4.41 µA/cm2, in patients with cystic fibrosis, the ΔISC values did not exceed 2.97 ± 0.61 µA/cm2. The developed reference values of the method for determining the difference in intestinal potentials can be used in clinical practice to assess the clinical significance of new rare genetic variants of cystic fibrosis or at borderline values of a sweat test.

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References:
1. Kapranov N. I., Kashirskaya N. Ju. Cystic fibrosis. Moscow: Medpraktika-M, 2014. (In Russ.).
2. Gibson L. E., Cooke R. E. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;129:892-897.
3. Strausbaugh S. D., Davis P. B. Cystic fibrosis: a review of epidemiology and pathobiology. Clin. Chest Med. 2007;(28):279-288. https://doi.org/1016/j.ccm.2007.02.011
4. Rowe S. M., Clancy J. P., Wilschanski M. Nasal potential difference measurements to assess CFTR ion channel activity. Methods In Molecular Medicine. 2011;741:69-86. https://doi.org/10.1007/978-1-61779-117-8_6
5. Kondratyeva E. I., Melyanovskaya Yu. L., Sherman V. D., De Jonge H. R., Efremova A. S. [et al.]. Functional methods of diagnosing disorders of the CFTR gene and its product. Voprosy Prakticheskoj Pediatrii. – Clinical Practice in Pediatrics. 2018;13(4):50-64. (In Russ.).
6. Hug M. J., Derichs N., Bronsveld I., Clancy J. P. Measurement of ion transport function in rectal biopsies. Methods in Molecular Biology. 2011;741:87-107. https://doi.org/10.1007/978-1-61779-117-8_7
7. Castellani C., Duff A., Bell S., Heijerman H. G. M., Munck A. [et al.]. ECFS best practice guidelines: the 2018 revision. J. Cystic Fibrosis. 2018;(17):153-178. https://doi.org/10.1016/j.jcf.2018.02.006
8. Sousa M., Servidoni M. F., Vinagre A. M., Ramalho A. S., Bonadia L. C. [et al.]. Measurements of CFTR-mediated Cl-secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis. PLoS One. 2012;(7):e47708. https://doi.org/10.1371/journal.pone.0047708
9. Derichs N., Sanz J., Von Kanel T., Stolpe C., Zapf A. [et al.]. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax. 2010;(65):594-599. https://doi.org/10.1136/thx.2009.125088
10. Hirtz S., Gonska T., Seydewitz H. H., Thomas J., Greiner P. [et al.]. CFTR Cl-channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology. 2004;(127):1085-1095. https://doi.org/10.1053/j.gastro.2004.07.006
11. Cutting G. R. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat. Rev. Genetics. 2015;16(1):45-56. https://doi.org/10.1038/nrg3849
12. Registry of cystic fibrosis patients in Russian Federation. 2017. Edited by Voronkova A., Amelina E., Kashirskaya N., Kondratyeva E., Krasovsky S. [et al.]. Moscow, 2019. (In Russ.).
13. Clancy J. P., Szczesniak R. D., Ashlock M. A., Ernst S. E., Fan L. [et al.]. Multicenter Intestinal Current Measurements in Rectal Biopsies from CF and Non-CF Subjects to Monitor CFTR Function. Plos One J. 2013;8(9)e73905.
14. ECFSPR Annual Report 2017, Zolin A., Orenti A., Naehrlich L., van Rens J. [et al.]. 2019. 15. Официальная инструкция препарата Симдеко. Available at: https://www.symdeko. Accessed January 23, 2020.

Keywords: cystic fibrosis, genetic variants, intestinal current measurement, CFTR gene, CFTR protein


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